PPL c.1650+195A>T

Variant ID: 16-4943019-T-A

NM_002705.4(PPL):c.1650+195A>T

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs12921187
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Genome-Wide Association Studies of Hypertension and Several Other Cardiovascular Diseases.

Pulse (Basel, Switzerland)
Wang, Yan Y; Wang, Ji-Guang JG
Publication Date: 2019-04

Variant appearance in text: rs12921187
PubMed Link: 31049317
Variant Present in the following documents:
  • Main text
View BVdb publication page



A multimodal approach to cardiovascular risk stratification in patients with type 2 diabetes incorporating retinal, genomic and clinical features.

Scientific Reports
Fetit, Ahmed E AE; Doney, Alexander S AS; Hogg, Stephen S; Wang, Ruixuan R; MacGillivray, Tom T; Wardlaw, Joanna M JM; Doubal, Fergus N FN; McKay, Gareth J GJ; McKenna, Stephen S; Trucco, Emanuele E
Publication Date: 2019-03-05

Variant appearance in text: rs12921187
PubMed Link: 30837638
Variant Present in the following documents:
  • Main text
  • 41598_2019_Article_40403.pdf
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Leveraging linkage evidence to identify low-frequency and rare variants on 16p13 associated with blood pressure using TOPMed whole genome sequencing data.

Human Genetics
He, Karen Y KY; Li, Xiaoyin X; Kelly, Tanika N TN; Liang, Jingjing J; Cade, Brian E BE; Assimes, Themistocles L TL; Becker, Lewis C LC; Beitelshees, Amber L AL; Bress, Adam P AP; Chang, Yen-Pei Christy YC; Chen, Yii-Der Ida YI; de Vries, Paul S PS; Fox, Ervin R ER; Franceschini, Nora N; Furniss, Anna A; Gao, Yan Y; Guo, Xiuqing X; Haessler, Jeffrey J; Hwang, Shih-Jen SJ; Irvin, Marguerite Ryan MR; Kalyani, Rita R RR; Liu, Ching-Ti CT; Liu, Chunyu C; Martin, Lisa Warsinger LW; Montasser, May E ME; Muntner, Paul M PM; Mwasongwe, Stanford S; Palmas, Walter W; Reiner, Alex P AP; Shimbo, Daichi D; Smith, Jennifer A JA; Snively, Beverly M BM; Yanek, Lisa R LR; Boerwinkle, Eric E; Correa, Adolfo A; Cupples, L Adrienne LA; He, Jiang J; Kardia, Sharon L R SLR; Kooperberg, Charles C; Mathias, Rasika A RA; Mitchell, Braxton D BD; Psaty, Bruce M BM; Vasan, Ramachandran S RS; Rao, D C DC; Rich, Stephen S SS; Rotter, Jerome I JI; Wilson, James G JG; , ; Chakravarti, Aravinda A; Morrison, Alanna C AC; Levy, Daniel D; Arnett, Donna K DK; Redline, Susan S; Zhu, Xiaofeng X
Publication Date: 2019-02

Variant appearance in text: rs12921187
PubMed Link: 30671673
Variant Present in the following documents:
  • Main text
View BVdb publication page



Brief Overview of a Decade of Genome-Wide Association Studies on Primary Hypertension.

International Journal Of Endocrinology
Azam, Afifah Binti AB; Azizan, Elena Aisha Binti EAB
Publication Date: 2018

Variant appearance in text: rs12921187
PubMed Link: 29666641
Variant Present in the following documents:
  • Main text
  • IJE2018-7259704.pdf
View BVdb publication page



Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk.

Nature Genetics
Warren, Helen R HR; Evangelou, Evangelos E; Cabrera, Claudia P CP; Gao, He H; Ren, Meixia M; Mifsud, Borbala B; Ntalla, Ioanna I; Surendran, Praveen P; Liu, Chunyu C; Cook, James P JP; Kraja, Aldi T AT; Drenos, Fotios F; Loh, Marie M; Verweij, Niek N; Marten, Jonathan J; Karaman, Ibrahim I; Lepe, Marcelo P Segura MP; O'Reilly, Paul F PF; Knight, Joanne J; Snieder, Harold H; Kato, Norihiro N; He, Jiang J; Tai, E Shyong ES; Said, M Abdullah MA; Porteous, David D; Alver, Maris M; Poulter, Neil N; Farrall, Martin M; Gansevoort, Ron T RT; Padmanabhan, Sandosh S; Mägi, Reedik R; Stanton, Alice A; Connell, John J; Bakker, Stephan J L SJ; Metspalu, Andres A; Shields, Denis C DC; Thom, Simon S; Brown, Morris M; Sever, Peter P; Esko, Tõnu T; Hayward, Caroline C; van der Harst, Pim P; Saleheen, Danish D; Chowdhury, Rajiv R; Chambers, John C JC; Chasman, Daniel I DI; Chakravarti, Aravinda A; Newton-Cheh, Christopher C; Lindgren, Cecilia M CM; Levy, Daniel D; Kooner, Jaspal S JS; Keavney, Bernard B; Tomaszewski, Maciej M; Samani, Nilesh J NJ; Howson, Joanna M M JM; Tobin, Martin D MD; Munroe, Patricia B PB; Ehret, Georg B GB; Wain, Louise V LV; , ; , ; , ; , ; , ; , ; , ; , ; , ; , ; ,
Publication Date: 2017-03

Variant appearance in text: rs12921187
PubMed Link: 28135244
Variant Present in the following documents:
  • Main text
  • emss-70782.pdf
  • NIHMS70782-supplement-Supplementary_tables.xlsx, sheet 16
View BVdb publication page